A- or hypo-gammaglobulinaemia
Gene: MYD88

MYD88 (myeloid differentiation primary response 88)
EnsemblGeneIds (GRCh38): ENSG00000172936
EnsemblGeneIds (GRCh37): ENSG00000172936
OMIM: 602170, Gene2Phenotype
MYD88 is in 4 panels

4 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: One red, amber and green review, several publictions, but no association gen2phen
Created: 10 May 2016, 11:36 a.m.

Comment on mode of inheritance: Reported as homozygous and heterozygous loss of function
Created: 10 May 2016, 11:28 a.m.

Created: 10 May 2016, 11:28 a.m.

Panel version: 0.57

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Although causing subtle abnormalities of B cell differentiation and antibody production, biallelic mutations of this gene are not linked to hypo-or a-gammaglobulinaemia to my knowledge
Created: 19 Oct 2015, 1:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
recurrent pyogenic bacterial infection

Created: 19 Oct 2015, 1:03 p.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Radboud University Medical Center, Nijmegen

Phenotypes

Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
Macroglobulinemia, Waldenstrom, somatic, 153600

OMIM

602170

Clinvar variants

Variants in MYD88

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene